Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OTUD7A_chr15_31470398_31875673	31510655	AACATACA others(122): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04115.hp1 HG01081.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0065 a0001c0001t0007 a0001c0001t0065	a0001c0001t0007g0147 a0001c0001t0065g0058 a0001c0001t0007g0147 a0001c0001t0065g0058	2	244	0.0082	-129	c.894 others(17): Show c.894-6966_894-6838del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510680	AACATACA others(122): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	244	0.0041	-129	c.894 others(17): Show c.894-6991_894-6863del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685864	CAGAACAG others(122): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA20805.hp1 HG01358.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0295 a0002c0002t0001g0318 a0001c0001t0001g0295 a0002c0002t0001g0318	2	362	0.0055	-129	c.981 others(17): Show c.981+2019_981+2147del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(122): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp1 NA18522.hp1 HG01081.hp2 HG03516.hp1 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0002c0002t0001 a0005c0009t0001 a0001c0001t0001 a0002c0002t0001 a0005c0009t0001	a0001c0001t0001g0297 a0002c0002t0001g0184 a0005c0009t0001g0344 a0001c0001t0001g0297 a0002c0002t0001g0184 a0005c0009t0001g0344	3	362	0.0083	-129	c.981 others(17): Show c.981+1937_981+2065del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686052	GCCCAGCC others(122): Show GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	362	0.0028	-129	c.981 others(17): Show c.981+1831_981+1959del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686061	CAGAACAG others(122): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	362	0.0028	-129	c.981 others(17): Show c.981+1822_981+1950del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686272	ACACAGCG others(122): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	362	0.0028	-129	c.981 others(17): Show c.981+1611_981+1739del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686612	GGGGCCCC others(122): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCT CCCAGCCTGAGAACAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02257.hp2 HG03834.hp2 HG01358.hp2 HG02257.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0295 a0002c0002t0001g0160 a0002c0002t0001g0232 a0001c0001t0001g0295 a0002c0002t0001g0160 a0002c0002t0001g0232	3	362	0.0083	-129	c.981 others(17): Show c.981+1271_981+1399del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687006	GCACAGCT others(122): Show GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	362	0.0028	-129	c.981 others(16): Show c.981+877_981+1005del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687145	GCCCCCAG others(122): Show GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00423.hp2 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0171 a0002c0002t0002g0125 a0002c0002t0002g0171	2	362	0.0055	-129	c.981 others(15): Show c.981+738_981+866del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687539	GCCCCCAG others(122): Show GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	362	0.0028	-129	c.981 others(15): Show c.981+344_981+472del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCGF3_chr4_700832_775089	717038	GGTGAGAA others(122): Show GGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGA ACTGAGCGTCGGTGCTGGGACCCTGTAGACACTGAATGTGAGAACTGAGC GTCGGTGCTGGGACCCTGTAGACACTGAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(176): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0044 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0003t0029 a0001c0003t0032 a0001c0003t0054 a0001c0003t0056 a0001c0004t0020 a0001c0006t0006 a0002c0002t0002 a0002c0002t0016 a0002c0002t0057 a0002c0007t0055	a0001c0001t0001g0156 a0001c0001t0002g0146 a0001c0001t0002g0148 others(176): Show a0001c0001t0001g0156 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0363 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0318 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0244 a0001c0001t0004g0256 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0006g0003 a0001c0001t0006g0080 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0144 a0001c0001t0007g0071 a0001c0001t0007g0079 a0001c0001t0007g0120 a0001c0001t0007g0154 a0001c0001t0008g0171 a0001c0001t0008g0319 a0001c0001t0008g0344 a0001c0001t0009g0324 a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0332 a0001c0001t0009g0334 a0001c0001t0009g0335 a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0011g0111 a0001c0001t0011g0112 a0001c0001t0011g0333 a0001c0001t0012g0290 a0001c0001t0013g0152 a0001c0001t0013g0165 a0001c0001t0014g0167 a0001c0001t0018g0341 a0001c0001t0019g0356 a0001c0001t0019g0357 a0001c0001t0019g0358 a0001c0001t0023g0285 a0001c0001t0023g0293 a0001c0001t0024g0322 a0001c0001t0024g0328 a0001c0001t0025g0115 a0001c0001t0025g0116 a0001c0001t0026g0113 a0001c0001t0026g0114 a0001c0001t0030g0088 a0001c0001t0030g0106 a0001c0001t0031g0104 a0001c0001t0031g0105 a0001c0001t0036g0074 a0001c0001t0044g0243 a0001c0001t0058g0336 a0001c0001t0060g0147 a0001c0001t0062g0173 a0001c0001t0065g0107 a0001c0001t0066g0091 a0001c0001t0067g0092 a0001c0001t0068g0145 a0001c0003t0005g0121 a0001c0003t0005g0122 a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0003t0005g0126 a0001c0003t0005g0132 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0143 a0001c0003t0005g0323 a0001c0003t0005g0347 a0001c0003t0010g0127 a0001c0003t0010g0128 a0001c0003t0010g0129 a0001c0003t0015g0004 a0001c0003t0015g0084 a0001c0003t0015g0085 a0001c0003t0015g0103 a0001c0003t0029g0130 a0001c0003t0029g0131 a0001c0003t0032g0095 a0001c0003t0032g0109 a0001c0003t0054g0134 a0001c0003t0056g0314 a0001c0004t0020g0118 a0001c0004t0020g0251 a0001c0004t0020g0320 a0001c0006t0006g0094 a0002c0002t0002g0321 a0002c0002t0002g0331 a0002c0002t0016g0076 a0002c0002t0016g0077 a0002c0002t0016g0078 a0002c0002t0057g0330 a0002c0007t0055g0140	179	366	0.4891	-129	c.-19 others(21): Show c.-190+11251_-190+11379del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668633	CCCGCTAC others(122): Show CCCGCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCAT GCTATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTA TGCCATGCTATTCCCCTACCCCATGCTATT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0005 a0001c0025t0001g0005 a0001c0001t0001g0005 a0001c0025t0001g0005	2	308	0.0065	-129	c.250 others(17): Show c.2503+630_2503+758del	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668636	GCTACCCC others(122): Show GCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT ATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGC CATGCTATTCCCCTACCCCATGCTATTCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(53): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0029 a0002c0003 a0005c0011 a0006c0013 a0012c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0001c0029t0001 a0002c0003t0005 a0005c0011t0001 a0006c0013t0010 a0012c0019t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0046 others(50): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0004g0065 a0001c0001t0004g0087 a0001c0001t0005g0167 a0001c0001t0005g0265 a0001c0001t0006g0045 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0004g0011 a0001c0002t0004g0029 a0001c0002t0004g0059 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0005t0001g0223 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0017t0004g0030 a0001c0029t0001g0026 a0002c0003t0005g0268 a0002c0003t0005g0271 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0276 a0002c0003t0005g0277 a0005c0011t0001g0266 a0005c0011t0001g0267 a0006c0013t0010g0041 a0006c0013t0010g0042 a0012c0019t0001g0061	56	308	0.1818	-129	c.250 others(17): Show c.2503+680_2503+808del	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDZRN4_chr12_41183320_41579745	41402402	CACAGTGT others(122): Show CACAGTGTGTATATATATATATACACACACAGTGTATATATATATATATA CACACTCTGTGTGTATATATATATATACACACAGGGTGTATATATATATA TATATACGCTGTGTGTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0048 a0001c0001 a0019c0048	a0001c0001t0001 a0019c0048t0001 a0001c0001t0001 a0019c0048t0001	a0001c0001t0001g0151 a0019c0048t0001g0144 a0001c0001t0001g0151 a0019c0048t0001g0144	2	206	0.0097	-129	c.844 others(21): Show c.844-104051_844-103923del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196429	GTGCCATA others(122): Show GTGCCATATATAATGTAATAATTATGTGTCATATATAATGTAATAATTAC ATCATATATAATGTAATAATTATATATGTCACATATAATGTAATAATTAT ATATGTCACATATAATGTAATAATTATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0230 a0001c0001t0015g0230	1	428	0.0023	-129	c.449 others(17): Show c.449-2579_449-2451del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR1_chr6_12711767_13292837	13231216	AAAAGAAA others(122): Show AAAAGAAAGAAGGAAAGAGAGAAAGAAAGAAGGAAAGAGAAAGAAAGAAG GAAAGAGAAAGAAGGAAAGAGAAAGAGAGAGCGAAAGAGAAGGAGGGAGG GAGGAAGGAAAGAAGGAAGGAAGGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01167.hp1 others(42): Show HG00735.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp2 NA18906.hp2 NA18983.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0085 a0001c0001t0002g0102 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0004g0107 a0001c0001t0007g0067 a0001c0001t0008g0106 a0001c0002t0001g0013 a0001c0002t0001g0031 a0001c0002t0001g0057 a0001c0002t0003g0087 a0001c0002t0003g0095 a0001c0003t0004g0105	45	108	0.4167	-129	c.139 others(19): Show c.1391+1151_1391+1279del	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143741092	GCAAAAAT others(122): Show GCAAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATGAGTCAGGAGTTCAAGACCAGCCTGGCCAA CATGGGGAAACCCCATCTCTACTAAAAATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0088 a0002c0002t0088	a0002c0002t0088g0272 a0002c0002t0088g0272	1	310	0.0032	-129	c.215 others(17): Show c.215-7880_215-7752del	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PON1_chr7_95292676_95329532	95314666	GAATCTGT others(122): Show GAATCTGTCAAGCTGGGGGCTGGGCATCGAGTCTTTTTAAACTCTTCAGG TGCTACCATTGTGCAACTGGGGCTGAAAATTAATACAGAGACAAGGAAGT GACAGCAAATGGAAAGGGAGAAAGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0275 a0003c0007t0001g0275	1	434	0.0023	-129	c.370 others(15): Show c.370+527_370+655del	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	4/8			chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50338590	TGGTGTGT others(122): Show TGGTGTGTGGTGTGTGTGGTATGTAGTATGTGTGGTATATGGTGTGTGGT GTCTGTGGTATGTAGTGTGTGTGGTATGTGGTGTGTGTGTAGTATGTGGT GTGTGTGGTGTGTGTAGGGTGTGTGGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	-129	c.-51 others(11): Show c.-5107_-4979del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		4736		chr22	TogoVar
PRKCG_chr19_53877197_53912652	53902236	AAACCCCG others(122): Show AAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGATGTG TGCCTGTCAACCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAA CCCAGGAGGTGGAGGTTGCAGTGAGCCAAG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0204 a0004c0019t0001g0204	1	362	0.0028	-129	c.157 others(17): Show c.1576-835_1576-707del	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PTPN9_chr15_75458251_75584315	75503447	CCCGTCTG others(122): Show CCCGTCTGAGAAGTGAGGAGTCCCTCTGCCCGGCAGCCACCCCGTCTGGG AAGTGAGGAGCGTCTCCGCCCGGCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	326	0.0031	-129	c.968 others(17): Show c.968+2099_968+2227del	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PTPRE_chr10_127902103_128090855	128050260	GATGGATG others(122): Show GATGGATGGATGAGTGGGAGGGCAGATGGATGGATGAATGAATGCATGGA TGGATGGATGAGTGGGAGGGCGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGAGTGGGAGGGCAT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0287 a0001c0001t0041g0287	1	304	0.0033	-129	c.420 others(15): Show c.420+630_420+758del	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRS_chr19_5200508_5345812	5321810	GCCCTGAG others(122): Show GCCCTGAGATGTCCTCATTTTACAAACAGGTAAACCGAGGCTTGGAGAAA TAGAACCATTTATCCAAGCCCCAAAACTGTCTTCATTTCCACATAGGTAA GCTGAGGCTGAGTTCAGCTATTTGCCCAAA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0263 a0001c0003t0043g0263	1	276	0.0036	-129	c.-95 others(19): Show c.-95+18725_-95+18853del	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PXDN_chr2_1626887_1749515	1703929	ACAACTCC others(122): Show ACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGTAGGGGACAACT CCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGT GAAGGGGGGCAACTCCAGGTGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(94): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0016 a0001c0022 a0001c0026 a0001c0030 a0001c0032 a0001c0033 a0001c0040 a0001c0044 a0002c0009 a0003c0018 a0004c0036 a0006c0025 a0010c0043 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0005t0007 a0001c0006t0008 a0001c0010t0008 a0001c0013t0002 a0001c0016t0005 a0001c0022t0014 a0001c0026t0001 a0001c0030t0001 a0001c0032t0028 a0001c0033t0001 a0001c0040t0030 a0001c0044t0025 a0002c0009t0011 a0003c0018t0005 a0004c0036t0003 a0006c0025t0020 a0010c0043t0006 a0012c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0138 others(94): Show a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0003g0180 a0001c0001t0005g0175 a0001c0001t0009g0178 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0019g0242 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0026 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0112 a0001c0002t0003g0169 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0314 a0001c0002t0032g0289 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0008g0305 a0001c0003t0012g0255 a0001c0004t0004g0029 a0001c0004t0004g0164 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0005t0007g0161 a0001c0006t0008g0315 a0001c0010t0008g0309 a0001c0013t0002g0307 a0001c0016t0005g0001 a0001c0022t0014g0047 a0001c0026t0001g0261 a0001c0030t0001g0308 a0001c0032t0028g0046 a0001c0033t0001g0216 a0001c0040t0030g0088 a0001c0044t0025g0210 a0002c0009t0011g0301 a0003c0018t0005g0048 a0004c0036t0003g0036 a0006c0025t0020g0172 a0010c0043t0006g0062 a0012c0021t0002g0251	97	322	0.3012	-129	c.201 others(19): Show c.201-10924_201-10796del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB40B_chr17_82649973_82703698	82691993	AGCAGAGC others(122): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAG CAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGG GCCCGCACGGTCCGTGGGCTGAGGTGACAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01243.hp1 others(26): Show HG00140.hp1 HG00597.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp1 HG03209.hp2 HG03516.hp2 HG03942.hp2 NA18522.hp2 NA18942.hp2 NA18950.hp1 NA18967.hp2 NA18972.hp1 NA18983.hp1 NA18991.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0042	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(26): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0216 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0299 a0001c0001t0004g0026 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0007g0010 a0001c0001t0014g0039 a0001c0001t0015g0037 a0001c0001t0017g0312 a0001c0001t0042g0012	29	338	0.0858	-129	c.142 others(17): Show c.142+6333_142+6461del	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174349116	ACCTCCCG others(122): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCTCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0160 a0001c0001t0011g0160	1	272	0.0037	-129	c.146 others(21): Show c.1466-21775_1466-21647del	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFX7_chr15_56082280_56248879	56110139	TGGGGGGG others(122): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGG GGAGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(12): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02148.hp1 HG02300.hp1 HG03017.hp1 NA18971.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0011 a0001c0004t0051 a0001c0004t0008 a0001c0004t0011 a0001c0004t0051	a0001c0004t0008g0214 a0001c0004t0008g0215 a0001c0004t0008g0216 others(12): Show a0001c0004t0008g0214 a0001c0004t0008g0215 a0001c0004t0008g0216 a0001c0004t0008g0219 a0001c0004t0008g0220 a0001c0004t0008g0221 a0001c0004t0008g0222 a0001c0004t0008g0224 a0001c0004t0008g0228 a0001c0004t0011g0217 a0001c0004t0011g0223 a0001c0004t0011g0226 a0001c0004t0011g0227 a0001c0004t0011g0229 a0001c0004t0051g0225	15	360	0.0417	-129	c.402 others(17): Show c.402-6598_402-6470del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RNASE10_chr14_20500537_20518884	20506163	ACCCCGTC others(122): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCATCTGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 HG00408.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0031 a0001c0001t0018 a0001c0001t0031	a0001c0001t0018g0059 a0001c0001t0031g0059 a0001c0001t0018g0059 a0001c0001t0031g0059	2	396	0.0051	-129	c.-6+ others(13): Show c.-6+172_-6+300del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF213_chr17_80255852_80403794	80314436	ATGGTGGA others(122): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA AGGTGATGGTGGAGGTAATGGAGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02257.hp1 HG02886.hp2 HG02056.hp2 HG02257.hp1 HG02886.hp2	a0001 a0057 a0072 a0001 a0057 a0072	a0001c0006 a0057c0120 a0072c0117 a0001c0006 a0057c0120 a0072c0117	a0001c0006t0005 a0057c0120t0050 a0072c0117t0026 a0001c0006t0005 a0057c0120t0050 a0072c0117t0026	a0001c0006t0005g0161 a0057c0120t0050g0249 a0072c0117t0026g0166 a0001c0006t0005g0161 a0057c0120t0050g0249 a0072c0117t0026g0166	3	292	0.0103	-129	c.281 others(19): Show c.2811+1276_2811+1404del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314604	GTGGTGGT others(122): Show GTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGA GGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTAC TGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0101 a0101	a0101c0106 a0101c0106	a0101c0106t0018 a0101c0106t0018	a0101c0106t0018g0032 a0101c0106t0018g0032	1	292	0.0034	-129	c.281 others(19): Show c.2811+1446_2811+1574del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314712	ATGGTGGA others(122): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA AGGTGATGGTGGAGGTAATGGAGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0083 a0083	a0083c0057 a0083c0057	a0083c0057t0004 a0083c0057t0004	a0083c0057t0004g0091 a0083c0057t0004g0091	1	292	0.0034	-129	c.281 others(19): Show c.2811+1552_2811+1680del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314886	GTGGAGGT others(122): Show GTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGTT GGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGA TGGTGGTGGTGAAGGTGATGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18960.hp1 NA19005.hp2 NA18946.hp1 NA18960.hp1 NA19005.hp2	a0006 a0020 a0006 a0020	a0006c0009 a0020c0026 a0006c0009 a0020c0026	a0006c0009t0009 a0020c0026t0007 a0006c0009t0009 a0020c0026t0007	a0006c0009t0009g0043 a0006c0009t0009g0265 a0020c0026t0007g0140 a0006c0009t0009g0043 a0006c0009t0009g0265 a0020c0026t0007g0140	3	292	0.0103	-129	c.281 others(19): Show c.2811+1735_2811+1863del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133682691	GCCCCTGT others(122): Show GCCCCTGTGCTGAAACCCATGCGCAGTGATGGTTGGAAACTGCTAGAAGC GAGGTCTGCACTCAGCCCCTGTGCTGAAACCCACGCGCAGTGATGGTTGG AAACTGCTAGAAGCGAGGTCTGCACTCAGC	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0218 a0001c0007t0002g0218	1	262	0.0038	-129	c.216 others(19): Show c.2163+2373_2163+2501del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SCGB1C2_chr17_132569_144067	141192	AGGGGAAC others(122): Show AGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTG GTGAGGGGACATGGGGGGGACCTTGGTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0002 a0005c0007t0001g0002	1	402	0.0025	-129	c.22 others(11): Show c.2251_*2379del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2126		chr17	TogoVar
SDHA_chr5_213320_262082	261702	GCCTCCCG others(122): Show GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATT ACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC CCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	266	0.0038	-129	c.52 others(11): Show c.5283_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4621		chr5	TogoVar
SDHA_chr5_213320_262082	261710	GCAGAGCA others(122): Show GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAG AGCATTACCGTGTGAGCTCCGCCCTCCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01928.hp2 HG01433.hp1 HG01928.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0002 a0001c0001t0002 a0003c0006t0002	a0001c0001t0002g0001 a0003c0006t0002g0064 a0001c0001t0002g0001 a0003c0006t0002g0064	2	266	0.0075	-129	c.52 others(11): Show c.5291_*5419del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4629		chr5	TogoVar
SDHA_chr5_213320_262082	261777	GAGCATTA others(122): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGC TCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	266	0.0038	-129	c.53 others(11): Show c.5358_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4696		chr5	TogoVar
SKI_chr1_2223319_2315213	2281420	GAGAGAGG others(122): Show GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC GAGAGGACAGGCGGTGGTGGAGATCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01517.hp1 HG02976.hp1 others(2): Show HG01109.hp1 HG01517.hp1 HG02976.hp1 NA18947.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0057 a0001c0001t0087	a0001c0001t0003g0224 a0001c0001t0004g0220 a0001c0001t0007g0281 others(2): Show a0001c0001t0003g0224 a0001c0001t0004g0220 a0001c0001t0007g0281 a0001c0001t0057g0288 a0001c0001t0087g0168	5	330	0.0152	-129	c.970 others(19): Show c.970-21549_970-21421del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281438	AGACAGGC others(122): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCATAGAGAGGACGCCCGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02074.hp2 NA18950.hp1 others(4): Show HG01074.hp1 HG02074.hp2 NA18950.hp1 NA18961.hp1 NA19070.hp1 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0027 a0001c0001t0059	a0001c0001t0001g0283 a0001c0001t0003g0032 a0001c0001t0006g0065 others(4): Show a0001c0001t0001g0283 a0001c0001t0003g0032 a0001c0001t0006g0065 a0001c0001t0006g0300 a0001c0001t0008g0210 a0001c0001t0027g0245 a0001c0001t0059g0244	7	330	0.0212	-129	c.970 others(19): Show c.970-21497_970-21369del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281515	CGCCCGAG others(122): Show CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGA GAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0032 a0003c0013t0032	a0003c0013t0032g0178 a0003c0013t0032g0178	1	330	0.0030	-129	c.970 others(19): Show c.970-21454_970-21326del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281782	AGACAGGC others(122): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19043.hp2 NA20129.hp1 HG00280.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0085 a0001c0001t0011 a0001c0001t0085	a0001c0001t0011g0003 a0001c0001t0085g0263 a0001c0001t0011g0003 a0001c0001t0085g0263	3	330	0.0091	-129	c.970 others(19): Show c.970-21158_970-21030del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281820	CGAGAGGA others(122): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	330	0.0030	-129	c.970 others(19): Show c.970-21153_970-21025del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282208	TGAGAAGA others(122): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0249 a0001c0001t0019g0249	1	330	0.0030	-129	c.970 others(19): Show c.970-20688_970-20560del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282355	CGGAGATC others(122): Show CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCTGAGAAGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	330	0.0030	-129	c.970 others(19): Show c.970-20598_970-20470del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A18_chr11_2897278_2930246	2921534	TGGGAGCA others(122): Show TGGGAGCAGCCTGCGGCCAAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02717.hp2 HG02257.hp1 HG02258.hp1 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0002t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175	3	405	0.0074	-129	c.865 others(15): Show c.865-550_865-422del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	AAGCCTGT others(122): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03654.hp2 HG03704.hp1 others(1): Show HG02165.hp1 HG03654.hp2 HG03704.hp1 NA18972.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0001 a0005c0006t0001 a0004c0005t0001 a0005c0006t0001	a0004c0005t0001g0233 a0004c0005t0001g0239 a0004c0005t0001g0255 others(1): Show a0004c0005t0001g0233 a0004c0005t0001g0239 a0004c0005t0001g0255 a0005c0006t0001g0080	4	405	0.0099	-129	c.865 others(15): Show c.865-393_865-265del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC39A14_chr8_22362278_22427736	22396410	AGAGGGGG others(122): Show AGAGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18993.hp1 NA18967.hp1 NA18993.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0126 a0003c0001t0001g0131 a0003c0001t0001g0126 a0003c0001t0001g0131	2	324	0.0062	-129	c.-15 others(17): Show c.-15-8282_-15-8154del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(122): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00597.hp2 others(10): Show HG00140.hp1 HG00544.hp2 HG00597.hp2 HG03540.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0001 a0001c0004 a0001c0005 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0003c0001t0001	a0001c0004t0001g0157 a0001c0004t0001g0227 a0001c0004t0002g0181 others(10): Show a0001c0004t0001g0157 a0001c0004t0001g0227 a0001c0004t0002g0181 a0001c0004t0002g0185 a0001c0004t0002g0195 a0001c0005t0003g0144 a0001c0005t0003g0149 a0001c0005t0003g0151 a0001c0005t0003g0165 a0001c0005t0003g0224 a0001c0005t0003g0235 a0003c0001t0001g0142 a0003c0001t0001g0158	13	324	0.0401	-129	c.-15 others(17): Show c.-15-8272_-15-8144del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396427	AGAGAGAG others(122): Show AGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0141 a0001c0005t0008g0162 a0001c0005t0008g0141 a0001c0005t0008g0162	2	324	0.0062	-129	c.-15 others(17): Show c.-15-8268_-15-8140del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar

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